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Female-Restricted Epilepsy with Mental Retardation

mutation in PCDH19

Also Known As:

Epilepsy, Female-Restricted, with Mental Retardation; Convulsive Disorder and Mental Retardation

Networked: 1 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Neurobehavioral Manifestations: 1586
    - Intellectual Disability: 8035
      - Female-Restricted Epilepsy with Mental Retardation: 1
- Central Nervous System Diseases: 4213
  - Brain Diseases: 15694
    - Epilepsy: 37791
      - Female-Restricted Epilepsy with Mental Retardation: 1
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Neurobehavioral Manifestations: 1586
      - Intellectual Disability: 8035
        Female-Restricted Epilepsy with Mental Retardation: 1
Behavior and Behavior Mechanisms
- Neurobehavioral Manifestations: 1586
  - Intellectual Disability: 8035
    - Female-Restricted Epilepsy with Mental Retardation: 1
Mental Disorders: 24177
- Neurodevelopmental Disorders: 3095
  - Intellectual Disability: 8035
    - Female-Restricted Epilepsy with Mental Retardation: 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - X-Linked Genetic Diseases: 42
    - Female-Restricted Epilepsy with Mental Retardation: 1

Experts

1.	Arranz, Amaia M: 1 article (01/2017)
2.	Callaerts-Vegh, Zsuzsanna: 1 article (01/2017)
3.	D'Hooge, Rudi: 1 article (01/2017)
4.	De Strooper, Bart: 1 article (01/2017)
5.	Dotti, Carlos G: 1 article (01/2017)
6.	Esteban, José A: 1 article (01/2017)
7.	Guix, Francesc X: 1 article (01/2017)
8.	Salas, Isabel H: 1 article (01/2017)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Female-Restricted Epilepsy with Mental Retardation:

1.	TetraspaninsIBA 01/01/2017 - "Deletions of Tetraspanin 6 (Tspan6) gene, a member of the tetraspanin family, have been reported in patients with Epilepsy Female-restricted with Mental Retardation (EFMR). "